Recessive pathogenic variants in LARGE1 lead to muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies type A6; MIM: 613,154) and muscular dystrophy-dystroglycanopathy (congenital with mental retardation type B6; MIM: 608,840). This evidence concerns the gene LARGE1 and Congenital muscular dystrophy due to dystroglycanopathy.